A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1069n166



Internal ID22800968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55621429..55621941hg38UCSC Ensembl
chr18:53288660..53289172hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38513
hg19513
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4563212, nsv4570926
Samples
Known GenesTCF4
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)dgv1069n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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